Clinical Trial Details
— Status: Withdrawn
Administrative data
| NCT number |
NCT02385162 |
| Other study ID # |
BGL 06-2018 |
| Secondary ID |
|
| Status |
Withdrawn |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
August 20, 2018 |
| Est. completion date |
February 28, 2021 |
Study information
| Verified date |
February 2023 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen
Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term
stability of the biomarker.
Description:
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause
glycogen to be improperly stored in the body. People with glycogen storage diseases have a
buildup of abnormal amounts or types of glycogen in their tissues.
The main types of glycogen storage diseases are categorized by number and name. They include:
People with GSD I may have episodes of low blood sugar (hypoglycemia), usually during periods
of fasting, due to the ability to store glycogen but inability to properly release it. People
with GSD I typically develop an enlarged liver (hepatomegaly) from the storage of glycogen.
Elevations in liver function enzymes, blood fat and cholesterol levels, lactic acid, and uric
acid also occur. Additional features of GSD I can include decreased bone density, poor
growth, kidney disease, liver adenomas, and delayed puberty. Treatment primarily consists of
dietary management to maintain normal blood glucose levels and prevent hypoglycemia. GSD I is
further divided into subtypes. GSD Type Ia is caused by a deficiency of glucose-6-phosphatase
(G6Pase) primarily in the liver, and GSD Type Ib is caused by a deficiency of
glucose-6-phosphate translocase. Many of the symptoms are similar, especially early in life.
However, some people with Type Ib are more prone to infections given a weaker immune system.
GSD I is caused by a non-working change in either the G6PC gene or the SLC37A4 gene, causing
the deficiency of the particular enzyme. GSD I follows autosomal recessive inheritance.
Glycogen Storage Disease Type II [also known as Pompe disease, Acid Maltase Deficiency,
Glycogenosis Type II, Acid alpha-Glucosidase Deficiency, Lysosomal alpha-Glucosidase
Deficiency] Pompe disease is an inherited and often fatal disorder caused by the deficiency
of acid alpha-glucosidase (GAA), an enzyme needed to breakdown glycogen (sugar that is stored
for energy) in specialized structures in the body, called lysosomes. Patients with Pompe
disease have little or no GAA enzyme activity and cannot breakdown glycogen. The excess
glycogen accumulates and is stored in the heart, skeletal muscle and other tissues, causing
the progressive symptoms of Pompe disease.Glycogen Storage Disease Type III [also known as
Cori disease, Forbes disease, Debrancher enzyme deficiency, Limit Dextrinosis]
